Affiliation:
1. Istanbul School of Medicine, Istanbul University, Istanbul, Turkey
2. Center for Pediatric Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA
Abstract
Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies. We report a 2-year-10-month-old white female with this syndrome caused by mutations in the ZEB2 gene, and in addition a duplication of the 22q11.23, a previously undocumented occurrence.
Subject
Neurology (clinical),Pediatrics, Perinatology and Child Health
Cited by
9 articles.
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